Canonical Allele Identifier: CA898751423
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1553781099
gnomAD v3: 3-129530533-A-ACACAACACACAC
gnomAD v4: 3-129530533-A-ACACAACACACAC
MyVariant Identifiers: chr3:g.129249376_129249377insCACAACACACAC (hg19) chr3:g.129530533_129530534insCACAACACACAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530533_129530534insCACAACACACAC , CM000665.2:g.129530533_129530534insCACAACACACAC GRCh38
NC_000003.11:g.129249376_129249377insCACAACACACAC , CM000665.1:g.129249376_129249377insCACAACACACAC GRCh37
NC_000003.10:g.130732066_130732067insCACAACACACAC NCBI36
NG_009115.1:g.6895_6896insCACAACACACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-343_362-342insCACAACACACAC MANE Select ENSP00000296271.3:n.362-343_362-342insCACAACACACAC
ENST00000296271.3:c.362-343_362-342insCACAACACACAC ENSP00000296271.3:n.362-343_362-342insCACAACACACAC
NM_000539.3:c.362-343_362-342insCACAACACACAC MANE Select NP_000530.1:n.362-343_362-342insCACAACACACAC
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